Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion

Mika Moriwaki, Barry Moore, Timothy Mosbruger, Deborah W. Neklason, Mark Yandell, Lynn B. Jorde, Corrine K. Welt

Data was analyzed using Omicia Opal (now known as Fabric Genomics) in a three-person cohort analysis including the proband, mother, and daughter. The software prioritizes variants using the Variant Annotation, Analysis and Search Tool (VAAST)...Mutations were prioritized by the Fabric Genomics' score (aka Omicia score) which ranks variants according to expected protein effects using SIFT (http://sift.jcvi.org/), Mutation Taster (http://www.mutationtaster.org/), PolyPhen (http://genetics.bwh.harvard.edu/pph2), and phyloP [17–19]. In both analyses, the Phenotype Driven Variant Ontological Re-ranking tool (Phevor) feature was used to further prioritize genes for analysis using premature ovarian failure and POI as filters [8, 20].